ClinVar Miner

Variants in gene GJB2

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
194 188 230 160 43 1 28 603

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
not provided 147 90 107 135 27 1 0 439
Autosomal recessive nonsyndromic hearing loss 1A 90 87 114 24 20 0 14 268
not specified 7 3 84 34 17 0 0 133
Autosomal dominant nonsyndromic hearing loss 3A 27 24 29 18 19 0 14 113
Nonsyndromic genetic hearing loss 44 17 17 4 5 0 0 84
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 38 30 1 0 0 0 0 68
Ichthyosis, hystrix-like, with hearing loss 2 0 26 12 25 0 0 64
Rare genetic deafness 44 19 0 0 0 0 0 63
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher 17 2 16 6 3 0 0 44
GJB2-related disorder 27 6 2 7 2 0 0 44
Hearing loss 30 2 4 1 0 0 0 37
Hearing impairment 27 6 1 0 0 0 0 30
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B 14 2 0 0 0 0 0 16
Inborn genetic diseases 9 1 2 1 0 0 0 13
Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome 10 2 1 0 0 0 0 13
Hearing loss, autosomal recessive 2 9 1 0 1 0 1 12
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 7 2 1 0 0 0 0 10
Mutilating keratoderma 7 0 1 0 1 0 0 9
Palmoplantar keratoderma-deafness syndrome 7 0 0 0 0 0 0 7
Nonsyndromic Deafness 4 0 2 0 0 0 0 6
nonsyndromic sensorineural hearing loss 4 1 0 0 1 0 0 6
Knuckle pads, deafness AND leukonychia syndrome 5 0 0 0 0 0 0 5
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A 1 0 1 0 0 0 1 3
Deafness 3 0 0 0 0 0 0 3
Ear malformation 3 0 0 0 0 0 0 3
Hereditary palmoplantar keratoderma 3 0 0 0 0 0 0 3
See cases 3 0 0 0 0 0 0 3
Sensorineural hearing loss disorder 1 1 1 0 0 0 0 3
Autism spectrum disorder 2 0 0 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 104 2 0 0 0 0 0 0 2
Hereditary palmoplantar keratoderma; Nonsyndromic genetic hearing loss 2 0 0 0 0 0 0 2
Keratitis ichthyosis and deafness syndrome 0 0 1 0 1 0 0 2
Nonsyndromic Hearing Loss, Dominant 0 0 1 0 1 0 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 1 0 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 0 0 0 0 0 0 1 1
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 0 1
CREBBP-related disorder 1 0 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB3 1 0 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 1 0 0 0 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 1 0 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 1 0 0 0 0 0 0 1
IFAP syndrome 1, with or without BRESHECK syndrome 1 0 0 0 0 0 0 1
Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 1 0 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 0 1
Severe sensorineural hearing impairment 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 138
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 130 50 39 121 9 1 0 350
GeneDx 74 22 52 12 22 0 0 182
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 59 15 73 18 12 0 0 177
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 45 20 24 19 13 0 0 121
Counsyl 20 54 44 1 0 0 0 119
Natera, Inc. 48 6 31 10 8 0 0 103
Fulgent Genetics, Fulgent Genetics 47 31 15 6 3 0 0 101
Athena Diagnostics 41 7 26 4 8 0 0 86
Illumina Laboratory Services, Illumina 10 4 31 21 26 0 0 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 31 8 5 10 9 0 0 63
Eurofins Ntd Llc (ga) 29 3 13 3 10 0 0 58
PreventionGenetics, part of Exact Sciences 25 5 2 9 9 0 0 50
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 24 4 13 2 5 0 0 48
INGEBI, INGEBI / CONICET 25 4 9 4 5 0 0 47
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 28 5 11 0 1 0 0 45
OMIM 42 0 0 0 0 0 0 42
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 30 2 4 1 0 0 0 37
Genetic Services Laboratory, University of Chicago 29 0 2 0 5 0 0 36
CeGaT Center for Human Genetics Tuebingen 22 3 5 3 0 0 0 33
ClinGen Hearing Loss Variant Curation Expert Panel 13 7 10 0 0 0 0 30
Revvity Omics, Revvity 22 3 4 0 0 0 0 29
GeneReviews 2 0 0 0 0 0 26 28
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 1 3 4 5 0 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 10 1 2 4 5 0 0 22
Myriad Genetics, Inc. 15 1 6 0 0 0 0 22
Baylor Genetics 16 2 4 0 0 0 0 21
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 16 4 1 0 0 0 0 21
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 12 0 0 18
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 11 2 3 0 1 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 12 2 3 0 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 12 2 1 0 0 0 0 15
3billion 12 3 0 0 0 0 0 15
Knight Diagnostic Laboratories, Oregon Health and Sciences University 13 2 0 0 0 0 0 14
Ambry Genetics 9 1 2 1 0 0 0 13
Mendelics 8 0 1 0 4 0 0 13
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 9 3 0 2 0 0 0 13
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 7 3 1 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 2 0 0 0 0 0 10
Institute of Rare Diseases, West China Hospital, Sichuan University 5 5 0 0 0 0 0 10
MGZ Medical Genetics Center 9 0 0 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 1 1 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 1 1 2 1 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 8 0 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 0 0 0 0 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 7 0 1 0 0 0 0 8
Genome-Nilou Lab 4 1 3 0 0 0 0 8
Pars Genome Lab 0 1 0 3 5 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 5 1 1 0 0 0 0 7
Clinical Genetics and Genomics, Karolinska University Hospital 6 1 0 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 3 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 5 0 1 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 0 0 0 0 0 6
DASA 5 1 0 0 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 5 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 1 1 1 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 5 0 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 2 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 1 0 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 0 0 1 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 2 0 1 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 0 3
King Laboratory, University of Washington 3 0 0 0 0 0 0 3
Center for Statistical Genetics, Columbia University 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 3 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 0 3
New York Genome Center 2 0 1 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 2 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 1 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 0 2
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 2 0 0 0 0 0 0 2
UAEU Genomics Laboratory, United Arab Emirates University 2 0 0 0 0 0 0 2
Gene Friend Way, National Innovation Center 2 0 0 0 0 0 0 2
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 1 0 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon 0 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Uitto Lab, Thomas Jefferson University 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 1
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics 0 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 0 1
Dr. Hideyo Noguchi Regional Research Center, Autonomous University of Yucatán 0 1 0 0 0 0 0 1
Wonkam Laboratory, Johns Hopkins University 1 0 0 0 0 0 0 1

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